Preferred Name

Maturity-Onset Diabetes of the Young

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114769

code

C114769

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

Contributing_Source

Cellosaurus

DEFINITION

A rare autosomal dominant form of diabetes mellitus affecting young people with a positive family history. MODY is a form of monogenic diabetes, resulting from mutations in a single gene. The most common forms are HNF1alpha-MODY (MODY3) and GCK-MODY (MODY2), due to mutations in the HNF1A and GCK genes, respectively.

FULL_SYN

MODY

Maturity-Onset Diabetes of the Young

Maturity Onset Diabetes of the Young

label

Maturity-Onset Diabetes of the Young

Preferred_Name

Maturity-Onset Diabetes of the Young

prefixIRI

Thesaurus:C114769

prefLabel

Maturity-Onset Diabetes of the Young

Semantic_Type

Disease or Syndrome

UMLS_CUI

C4015560

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2985

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050524 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/606391 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/HP_0004904 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU069943 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/MONDO_0018911 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0018911 Experimental Factor Ontology / 实验性因素本体 LOOM